Two newborn babies with generalized arterial calcification of infancy, two new mutations

Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K. Two newborn babies with generalized arterial calcification of infancy, two new mutations. Turk J Pediatr 2016; 58: 419-423.Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life

___

1. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENNP1 are associated with “idiopathic’’ infantile arterial calcification. Nat Genet 2003; 34: 379-381.

2. www.omim.org/entry/208000

3. Rutsch F, Böyer P, Nitschke MS, et al. Hypophosphatemia, hyperphosphaturia, and biphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. CircCardiovasc Genet 2008; 1: 133-140.

4. Bollen M, Gijbers R, Ceulemans H, Stalmans W, Stefan C. Nucleotide pyrophosphatases/phosphodiesterases on the move. Crit Rev Biochem Mol Biol 2003; 35: 393-432.

5. Felisch H, Russell RG, Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 1996; 212: 901-903.

6. Menten ML, Fetterman GH. Coronary sclerosis in infancy: report of three autopsied cases, two siblings. Am J Clin Path 1948; 805-810.

7. Glatz AC, Pawel BR, Hsu DT, Weinberg P, Chrisant MR. Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant 2006; 10: 225-233.

8. Chong CR, Hutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Ped Develop Pathol 2008; 11: 405-415.

9. Brachet C, Mansbach AL, Clerckx A, Deltenre P, Heinrichs C. Hearing loss is a part of the clinical picture of ENPP1 loss of function mutation. Hormon Res Paediatr 2014; 81: 63-66.

10. Crade M, Lewis DF, Nageutte MP. In utero appearance of idiopathic infantile calcification: ultrasound study of a 28-week fetus. Ultrasound Obstet Gynecol 1991; 1: 284-285.

11. Nagar AM, Hanchate V, Tandon A, et al. Antenatal detection of idiopathic arterial calcification with hydrops fetalis. J Ultrasound Med 2003; 22: 653-659.

12. Heuser CC, Puchalski M, Kennedy A, et al. Radiographic and pathologic evaluation of idiopathic infantile arterial calcification. Obstet Gynecol 2010; 115: 465-468.

13. http://www.ensembl.org/index.html

14. http://www.mutationtaster.org/

15. Johnson K, Goding J, Van Etten D, et al. Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res 2003;18:994-1004.

16. Mackenzie NC, Huesa C, Rutsch F, MacRae VE. New insights into NPP1 function: lessons from clinical and animal studies. Bone 2012; 51: 961-968.

17. Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.Am J Hum Genet 2010 12; 86: 267-272.

18. Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F. Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A 2005; 136: 210-213.

19. Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF. Generalized arterial calcification of infancy: treatment with biphosphonates. Nat Clin Pract Endocrinol Metab 2009; 5: 167-172.

20. Rauch F, Plotkin H, Travers R, Zeitlin L, Glorieux FH. Osteogenesis imperfecta types I, III and IV: effect of pamidronatetheraphy on bone and mineral metabolism. J ClinEndocrinol Metab 2003; 88: 986-992.

21. http ://www.nature.com/bonekey/ knowledgeenvironment/2011/1106/bonekey20110516/ full/bonekey20110516.html

22. Villa-Bellosta R, Wang X, Millán JL, Dubyak GR, O’Neill WC. Extracellular pyrophosphate metabolism and calcification in vascular smooth muscle.Am J Physiol Heart Circ Physiol 2011; 301: H61-H68.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
Sayıdaki Diğer Makaleler

Multisystem langerhans cell histiocytosis with thymic involvement diagnosed with anterior mediastinal mass in a 2-month-old boy

Funda TEKKEŞİN, Arzu OKUR, Betül Emine DERİNKUYU, Nalan AKYÜREK, Aynur OĞUZ, Ceyda KARADENİZ, FARUK GÜÇLÜ PINARLI

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Ayşe METİN, Çağman TAN, Özlem KESKİN, İlhan TEZCAN, Özden SANAL, Deniz ÇAĞDAŞ-AYVAZ

Efficacy of asthma education program on asthma control in children with uncontrolled asthma

Özkan KARAMAN, Şule ÇAĞLAYAN-SÖZMEN, Özden ANAL, Nevin UZUNER, Sakine IŞIK, Zeynep ARIKAN-AYYILDIZ

Clarithromycin resistance and 23S rRNA gene point mutations of Helicobacter pylori infection in children

YELİZ ÇAĞAN APPAK, Hörü GAZi, SEMİN AYHAN, BEYHAN CENGİZ ÖZYURT, Semra KURUTEPE, Erhun KASIRGA

Is anti-Mullerian hormone an indicator of potential polycystic ovary syndrome in prepubertal girls with simple obesity?

Özlem KORKMAZ, Damla GÖKŞEN, Samim ÖZEN, ŞÜKRAN DARCAN

Oxygen therapy via high flow nasal cannula in pediatric intensive care unit

Arzu OTO, Seher ERDOĞAN, MEHMET BOŞNAK

A case with atrophic autoimmune thyroiditis-related hypothyroidism causing multisystem involvement in early childhood

Erdal KURNAZ, ŞENAY SAVAŞ ERDEVE, Melikşah KESKİN, Vehbi DOĞAN, SEMRA ÇETİNKAYA, Zehra AYCAN

Anti-cyclic citrullinated peptide antibodies are not frequently observed in children with type 1 diabetes mellitus: a single- center study

Melek YILDIZ, Özlem NALBANTOĞLU, Nilüfer ÇELİK, Figen İŞLETEN, Birsen TUĞLU, Behzat ÖZKAN, Korcan DEMİR, Hüseyin Anıl KORKMAZ

Surgical and clinical strategies in the management of thyroid medullary carcinoma in children with and without ret proto- oncogene mutations

Özlem BOYBEYİ-TÜRER, DOĞUŞ VURALLI KARAOĞLAN, İbrahim KARNAK, Nazlı GÖNÇ, Emel Şule YALÇIN, Diclehan ORHAN, Nurgün KANDEMİR, Feridun Cahit TANYEL

An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia

GÜZİDE AKSU, ŞÜKRAN DARCAN, SAMİM ÖZEN, Damla GÖKŞEN, NESLİHAN KARACA, Ezgi ULUSOY, NECİL KÜTÜKÇÜLER, YEŞİM ERTAN